*  Familial nonspherocytic anemia of Basenji dogs | definition of familial nonspherocytic anemia of Basenji dogs by Medical...
What is familial nonspherocytic anemia of Basenji dogs? Meaning of familial nonspherocytic anemia of Basenji dogs medical term ... What does familial nonspherocytic anemia of Basenji dogs mean? ... familial nonspherocytic anemia of Basenji dogs explanation free ... Looking for online definition of familial nonspherocytic anemia of Basenji dogs in the Medical Dictionary? ... sickle cell anemia. An autosomal recessive disorder that causes an abnormality of the globin genes in hemoglobin. The frequency ...
  http://medical-dictionary.thefreedictionary.com/familial+nonspherocytic+anemia+of+Basenji+dogs
*  HK1 Gene - GeneCards | HXK1 Protein | HXK1 Antibody
Complete information for HK1 gene (Protein Coding), Hexokinase 1, including: function, proteins, disorders, pathways, orthologs ... Hexokinase deficiency (HK deficiency) [MIM:235700]: Rare autosomal recessive disease with nonspherocytic hemolytic anemia as ... hemolytic anemia due to hexokinase deficiency. *hemolytic anemia, nonspherocytic, due to hexokinase deficiency ... Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1&keywords=GH10G069343&prefilter=genomic_location
*  Glycogen Storage Disease Xii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
OMIM : 53 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., ... normocytic anemia normochromic anemia congenital nonspherocytic hemolytic anemia normal red cell osmotic fragility ... is related to hemolytic anemia, and has symptoms including short neck, ptosis and intellectual disability. An important gene ... Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. ( 2825199 ...
  http://www.malacards.org/card/glycogen_storage_disease_xii
*  Frontiers | Red blood cell vesiculation in hereditary hemolytic anemia | Physiology
In hereditary hemolytic anemias, the underlying molecular defect affects and determines red blood cell vesiculation, resulting ... In hereditary hemolytic anemias, the underlying molecular defect affects and determines red blood cell vesiculation, resulting ... Also, we review recent scientific findings on the molecular defects of hereditary hemolytic anemias, and their correlation with ... little is known about red cell deformability and vesiculation in hereditary hemolytic anemias, and the associated ...
  https://www.frontiersin.org/articles/10.3389/fphys.2013.00365/full
*  anemia facts, information, pictures | Encyclopedia.com articles about anemia
Make research projects and school reports about anemia easy with credible articles from our FREE, online encyclopedia and ... autosomal recessive inheritance).. AUTOIMMUNE HEMOLYTIC ANEMIAS. Warm antibody hemolytic anemia is the most common type of this ... SICKLE CELL ANEMIA. Sickle cell anemia (see sickle cell anemia entry) is a genetic disorder. Cells receive genes that give them ... autosomal recessive inheritance).. Autoimmune hemolytic anemia. Warm antibody hemolytic anemia is the most common type of this ...
  https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/anemia
*  Congenital erythropoietic porphyria definition | Drugs.com
... autosomal recessive inheritance, caused by mutation in the uroporphyrinogen III synthase gene (UROS) on chromosome 10q; there ... often with hemolytic anemia and persistent cutaneous photosensitivity; caused by a deficiency of uroporphyrinogen III ...
  https://www.drugs.com/dict/congenital-erythropoietic-porphyria.html
*  Hexokinase - Wikipedia
Cellular Biology portal Hexokinase deficiency is a genetic autosomal recessive disease that causes Chronic Haemolytic Anaemia. ... Chronic Haemolytic Anaemia is caused by a mutation in the HK gene, which codes for the HK enzyme. The mutation causes a ... Genes that encode hexokinase have been discovered in every domain of life, and exist among a variety of species that range from ...
  https://en.wikipedia.org/wiki/Hexokinase
*  Basophilic stippling - BioMedSearch
Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked ... The gene encoding for this enzyme (P5'N-1) has been cloned recently, and seven mutations have so far been identified in 11 ... Pyrimidine 5' nucleotidase (P5'N-1) deficiency is an autosomal recessive condition causing hemolytic anemia characterized by ... Pyrimidine 5' nucleotidase (P5'N-1) deficiency is an autosomal recessive condition causing hemolytic anemia characterized by ...
  http://www.biomedsearch.com/searchlist.html?p=4&query_txt=Basophilic+stippling&sort=relevance
*  Signs or symptoms hematomacrosis - Tips and Tricks From Doctors
It is autosomal recessive: both parents must carry the gene & not all offspring will be affected. Secondary (= due to other ... hemochromatosis can occur with certain types of hemolytic anemia (red blood cells bursting, releasing iron). ...Read more ... Recessive genetics: Hereditary hemochromatosis is a recessive genetic disease - you have to inherit two mutations, one in each ... Hemochromatosis - do I have to be a gene carrier to have symptoms? My gastro is just ck for gene not actual blood levels. Seems ...
  https://www.healthtap.com/topics/signs-or-symptoms-hematomacrosis
*  CFI Gene - GeneCards | CFAI Protein | CFAI Antibody
Complete information for CFI gene (Protein Coding), Complement Factor I, including: function, proteins, disorders, pathways, ... Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to ... It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence ... Summaries for CFI Gene Entrez Gene Summary for CFI Gene. * This gene encodes a serine proteinase that is essential for ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFI
*  Metabolic Myopathies: Overview, Types of Myopathies, Classification
... myopathies refer to a group of hereditary muscle disorders caused by specific enzymatic defects due to defective genes. ... It is usually inherited as an autosomal recessive disorder but sometimes as a dominant trait. It is encoded by a gene on ... Mild hemolytic anemia. Indistinguishable clinically from McArdle disease, except that glucose intake prior to exercise does not ... CPT II deficiency is more common and is inherited as an autosomal recessive trait (gene is located on band 1p32). ...
  https://emedicine.medscape.com/article/1173338-overview
*  Glutathione synthetase - Wikipedia
Patients with mutations in the GSS gene develop glutathione synthetase (GSS) deficiency, an autosomal recessive disorder. ... Mildly affected patients experience a compensated haemolytic anaemia because mutations affect stability of the enzyme. ... In humans, defects in GSS are inherited in an autosomal recessive way and are the cause of severe metabolic acidosis, 5- ... "Molecular basis of glutathione synthetase deficiency and a rare gene permutation event". The EMBO Journal. 18 (12): 3204-13. ...
  https://en.wikipedia.org/wiki/Glutathione_synthetase
*  anti-Factor I antibody [OX-21] | GeneTex
Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to ... microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immmune deposits is another condition ... Mutations in this gene have been associated with a predisposition to atypical hemolytic uraemic syndrome, a disease ... This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is ...
  http://www.genetex.com/Complement-Factor-I-antibody-OX-21-GTX41626.html
*  Pyruvate kinase - Wikipedia
Pyruvate kinase deficiency is caused by an autosomal recessive trait. Mammals have two pyruvate kinase genes, PK-LR (which ... Therefore, pyruvate kinase deficiency can cause chronic nonspherocytic hemolytic anemia (CNSHA). ... Gene expression varies between the different isozymes. M1 and M2 isozymes are regulated by the gene PKM and R and L isozymes ... As a result, gene expression can be regulated by converting the highly active tetrameric form of PKM2, which yields high PEP ...
  https://en.wikipedia.org/wiki/Pyruvate_kinase
*  Adenosine deaminase - Wikipedia
Conversely, mutations causing this enzyme to be overexpressed are one cause of hemolytic anemia . There is some evidence that a ... The resulting deficiency is one cause of severe combined immunodeficiency (SCID), particularly of autosomal recessive ... ADA human gene location in the UCSC Genome Browser. ADA human gene details in the UCSC Genome Browser. Molecular and Cellular ... "Elevated adenosine deaminase activity and hereditary hemolytic anemia. Evidence for abnormal translational control of protein ...
  https://en.wikipedia.org/wiki/Adenosine_deaminase
*  Most recent papers with the keyword Chronic anemia | Read by QxMD
Sickle cell disease (SCD) is an autosomal recessive disease in which homozygosity for a single point mutation in the gene ... As patients live to adulthood, the chronic impact of sustained hemolytic anemia and episodic vaso-occlusive episodes leads to ... Ineffective erythropoiesis, chronic hemolytic anemia, and compensatory hematopoietic expansion are the disease hallmarks, and ... CLINICAL FEATURES OF THERAPY OF ANEMIA AND THE SIGNIFICANCE OF ITS FLUCTUATION IN THE DEVELOPMENT OF ANEMIA IN DIALYSIS ...
  https://www.readbyqxmd.com/keyword/92321
*  Pyruvate kinase deficiency. Causes, symptoms, treatment Pyruvate kinase deficiency
Pyruvate kinase deficiency is passed down as an autosomal recessive trait. A child must receive the non-working gene from both ... There are many different types of enzyme-related defects of the red blood cell that can cause hemolytic anemia. Pyruvate kinase ... Without this enzyme, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). ... They are made of too much bilirubin, which is produced during hemolytic anemia. Severe pneumococcal disease is a possible ...
  http://drugster.info/ail/pathography/353/
*  Bengal | Antagene
Gene involved : PKLR. Tested mutation : c.693+304G>A. Transmission : Autosomal Recessive ... Hemolytic anaemia. Description: Lack of the pyruvate kinase enzyme causing an early destruction of red blood cells, leading to ... Anaemia may only be moderate and intermittently detectable. In mild cases, symptoms may be late onset. ... Hemolytic anaemia. Bengal. PKDef - Pyruvate Kinase Deficiency ... an anaemia more or less severe according to individuals. ...
  http://www.antagene.com/en/chat/bengal
*  Isomerase - Wikipedia
... is a severe autosomal recessive inherited multisystem disorder of glycolyic metabolism. It is characterized by hemolytic anemia ... The most common mutation is the substitution of gene, Glu104Asp, which produces the most severe phenotype, and is responsible ... Being an autosomal recessive inherited disease, TPI deficiency has a 25% recurrence risk in the case of heterozygous parents. ... It is a congenital disease that most often occurs with hemolytic anemia and manifests with jaundice. Most patients with TPI for ...
  https://en.wikipedia.org/wiki/Isomerase
*  Glutathione synthetase deficiency - Wikipedia
The parents of an individual with an autosomal recessive disorder each carry one copy of the defective gene, but usually are ... Mild glutathione synthetase deficiency usually results in the destruction of red blood cells (hemolytic anemia). Rarely, ... This disorder is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two ... Glutathione synthetase deficiency is a rare autosomal recessive metabolic disorder that prevents the production of glutathione ...
  https://en.wikipedia.org/wiki/Glutathione_synthetase_deficiency
*  Lecithin-Cholesterol Acyltransferase Deficiency Publications and Abstracts | PubFacts.com
... an autosomal recessive disorder characterized by low high-density lipoprotein, anemia, and renal disease. This study aimed to ... deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol ... haemolytic anaemia and proteinuric chronic kidney disease (CKD); an incomplete form, only affecting the corneas, has been ... deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol ...
  https://www.pubfacts.com/search/Lecithin-Cholesterol+Acyltransferase+Deficiency
*  Hematology/Oncology Flashcards by Andrew Rivera | Brainscape
Autosomal recessive. Defect in pyruvate kinase leads to lower ATP leading to rigid RBCs. Hemolytic anemia in a newborn* ... Microcytic anemia. Defect in heme synthesis. Hereditary X-linked defect in delta-ALA synthase gene.. Causes: Genetic, Acquired ... Hemolytic anemia - Extrinsic Prosthetic heart valves and aortic stenosis may also cause hemolytic anemia secondary to ... Normocytic, normochromic anemias are classified as nonhemolytic or hemolytic. The hemolytic anemias are further classified ...
  https://www.brainscape.com/flashcards/hematology-oncology-3698361/packs/5585230
*  Triosephosphate isomerase deficiency - Wikipedia
Schneider, Arthur S.; William N. Valentine; Hattori M; H. L. Heins Jr (1965). "Hereditary Hemolytic Anemia with Triosephosphate ... Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965. It ... Thirteen different mutations in the respective gene, which is located at chromosome 12p13 and encodes the ubiquitous ... is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to ...
  https://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency
*  NT5C3 - Wikipedia
Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively ... The loss of NT5C3 in pyrimidine 5' nucleotidase deficiency, an autosomal recessive condition, leads to the accumulation of high ... This deficiency is characterized by moderate hemolytic anemia, jaundice, splenomegaly, and marked basophilic stippling, and has ... 2001). "Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency". Blood. 97 (11): 3327-32. doi: ...
  https://en.wikipedia.org/wiki/NT5C3
*  Most recent papers in the journal F1000Research | Read by QxMD
Thalassemia (thal) is an autosomal recessive, hereditary, chronic hemolytic anemia due to a partial or complete deficiency in ... When located in a gene promoter, DNA methylation often acts to repress transcription and gene expression. The most commonly ... RET, encoded by the most common driver gene in MTC, has been shown to be a dual function kinase, thus expanding its potential ... Gene set enrichment analysis is a popular approach for prioritising the biological processes perturbed in genomic datasets. The ...
  https://www.readbyqxmd.com/journal/47841